A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629489



Internal ID6669629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50782238..50794261hg38UCSC Ensembl
Innerchr12:50782738..50793761hg38UCSC Ensembl
Outerchr12:50781238..50795261hg38UCSC Ensembl
chr12:51176021..51188044hg19UCSC Ensembl
Innerchr12:51176521..51187544hg19UCSC Ensembl
Outerchr12:51175021..51189044hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3812024
hg1912024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479954, essv14479955, essv14479957, essv14479959, essv14479956, essv14479958
SamplesHG00608, NA18647, HG02648, HG02070, HG00631, NA18615
Known GenesATF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629489
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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